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Hot Topics of the Day|PHGKB
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10/17/2019

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

What’s the “value” of exome sequencing in children with neurodevelopmental disorders?
MJ Khoury, CDC Blog Post, October 16, 2019 Brand

Decisions as to which genetic tests are reimbursed by third-party payers may be shaped as much by payers’ perceptions and preferences as by evidence regarding benefits and costs, which is reflected in inconsistency in payer coverage decisions. The perceived “value” of genetic tests, depends in large part on which benefits are considered to matter.

Tracking human genes along the translational continuum
K Lee et al, NPJ Genomic Medicine, October 16, 2019

Understanding the drivers of research on human genes is a critical component to success of translation efforts of genomics into medicine and public health. Using publicly available curated online databases we sought to identify specific genes that are featured in translational genetic research in comparison to all genomics research publications.

Mapping 123 million neonatal, infant and child deaths between 2000 and 2017
R Burstein et al, Nature, October 176 2019

Here we quantified, for the period 2000–2017, the subnational variation in mortality rates and number of deaths of neonates, infants and children under 5 years of age within 99 low- and middle-income countries using a geostatistical survival model.

20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia
IK Luirink et al, NEJM, October 17, 2019

In this study, initiation of statin therapy during childhood in patients with familial hypercholesterolemia slowed the progression of carotid intima–media thickness and reduced the risk of cardiovascular disease in adulthood.

Direct-to-consumer genetic testing
R Horton et al, BMJ, October 16, 2019

Finding a “health risk” via DTC genetic testing often does not mean that a patient will develop the health problem in question. DTC genetic tests might report false positives. “Reassuring” results from DTC tests might be false negatives.If your patient meets criteria for referral to clinical genetics, refer regardless of the results of their DTC genetic test.

Beyoncé’s Dad Has a Mutation More African-Americans Should Be Tested For An inherited gene that can be discovered early caused Matthew Knowles’s breast cancer.
E Stallings, NY Times, October 16, 2019

Researchers at the Moffitt Cancer Center in Florida found that among young breast cancer patients who met the national guidelines for receiving genetic counseling, only 37 percent of black women had discussed it with a provider compared to 86 percent of white women. Just 36 percent of black women received testing for BRCA compared to 65 percent of white women.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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